Path: utzoo!utgpu!watserv1!watmath!uunet!shelby!agate!bionet!root From: GenBank-Updates@genbank.bio.net Newsgroups: bionet.molbio.genbank.updates Subject: Human Duchenne muscular dystrophy protein gene with a frame Message-ID: Date: 6 Feb 91 13:02:02 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 40 Approved: lear@genbank.bio.net Checksum: 58362 2 LOCUS HUMDMDMUT 180 bp ds-DNA PRI 06-FEB-1991 DEFINITION Human Duchenne muscular dystrophy protein gene with a frame shifting deletion mutation. ACCESSION M55699 KEYWORDS Duchenne muscular dystrophy protein. SOURCE Human (16 year old patient A.N.) blood DNA. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 180) AUTHORS Matsuo,M., Masumura,T., Nakajima,T., Kitoh,Y., Takumi,T., Koga,J. and Nakamura,H. TITLE A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene JOURNAL Biochem. Biophys. Res. Commun. 170, 963-967 (1990) STANDARD simple staff_entry FEATURES Location/Qualifiers intron 1..34 /gene="DMD" /partial exon 35..70 /note="Frame shift mutation is at the 3' exon/intron boundary" /gene="DMD" /codon_start=35 /product="Duchenne muscular dystrophy protein" mutation 68..69 /note="Site of small frame shifting deletion" /gene="DMD" intron 71..180 /note="Premature intron due to a small frame-shifting deletion." /gene="DMD" /partial BASE COUNT 63 a 27 c 32 g 58 t ORIGIN Chromosome X. 1 tattgaatta ctcatctttg ctctcatgct gcaggccata gagcgagaaa aagctgagaa 61 gttcagaatg gtaattacac gagttgattt agataatctt cttagggatt tgataaacac 121 ataggttcat atttatcagc tgaattatat cagacaagca cttgttaaat acaaatttaa //